What is Moyamoya Disease

Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries in the brain.

The name “moyamoya” means “puff of smoke” in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage. Moyamoya disease was first described in Japan in the 1960’s and it has since been found in individuals in the United States, Europe, Australia, and Africa.

The disease primarily affects children, but it can also occur in adults. In children, the first symptom of Moyamoya disease is often stroke, or recurrent transient ischaemic attacks (TIA, commonly referred to as “mini-strokes”), frequently accompanied by muscular weakness or paralysis affecting one side of the body, or seizures.

Adults most often experience a hemorrhagic stroke due to recurring blood clots in the affected brain vessels. Individuals with this disorder may have disturbed consciousness, speech deficits (usually aphasia), sensory and cognitive impairments, involuntary movements, and vision problems.

Researchers think that Moyamoya disease may be the result of inherited genetic abnormalities. Studies that look for the abnormal gene(s) may help reveal the bio mechanisms that cause the disorder.  Moyamoya Australia has gifted $47,500 to Macquarie University Neurosciences, specifically to create a database of the genetics of Moyamoya patients, we hope to find the key to early diagnosis and treatment.